In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis

by Conte, Federica, Ashikov, Angel, Mijdam, Rachel, van de Ven, Eline G.P., van Scherpenzeel, Monique, Veizaj, Raisa, Mahalleh-Yousefi, Seyed P., Post, Merel A., Huijben, Karin, Panneman, Daan M., Rodenburg, Richard J.T., Voermans, Nicol C., Garanto, Alejandro, Koopman, Werner J.H., Wessels, Hans J.C.T., Noga, Marek J., Lefeber, Dirk J.

Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction

by Panneman, Daan M., Wortmann, Saskia B., Haaxma, Charlotte A., van Hasselt, Peter M., Wolf, Nicole I., Hendriks, Yvonne, Küsters, Benno, van Emst-de Vries, Sjenet, van de Westerlo, Els, Koopman, Werner J.H., Wintjes, Liesbeth, van den Brandt, Frans, de Vries, Maaike, Lefeber, Dirk J., Smeitink, Jan A.M., Rodenburg, Richard J.